that causes mental retardation.
It affects one in every 15, 000
mainly from northern European descent.
Diagnosis and Treatment.
We analyze the blood of newborn taking
few drops of your foot.
The treatment is to prevent the intake of phenylalanine (see Diet)
There are special milk
free of phenylalanine.
After the full brain
the accumulation of phenylalanine is not as damaging.
Foods rich in phenylalanine, and should be avoided, are the animal
meat, fish and eggs.
Foods poor in phenylalanine, which may be freely, are the proteins of plant
The characteristic of the
Well if there is strict control of the intake of phenylalanine.
It affects how the body processes food:
affections can not process
component of proteins (amino acid) called for lack of the enzyme phenylalanine concerned.
result phenylalanine accumulates in the blood and causes brain damage and mental retardation.
Both parents must have the defective gene,
The probability that it will be passed to their
the likelihood of them suffer from the
(to inherit two defective genes) is 25%.
and they are carrying (carry one defective copy, which may happen to their offspring, and other
) of 50%.
The probability that the child is completely
(that carries two copies of the
gene, and therefore neither suffer nor can
) is 25%.
These probabilities are independent for
Signs and symptoms.
the first few months.
After starting to ignore her for about
year and already have
mental disability, which makes them
Convulsions can occur.
Dry skin, skin rashes and smell like mold.
They have blond hair and developed well.
already been mentioned the pattern of inheritance of the
Food rich in phenylalanine.
Non - lactating
Early diagnosis by amniocentesis or chorionic biopsy in the first weeks of
Their detection is part of the battery of tests that are done routinely to newborns, as part of screening programs for metabulopatías (
defects) driven by the
The low phenylalanine diet should start before the fourth week of life.
counseling for parents.